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Summary Literature (0)
DOID:0050722 - PHGDH deficiency

Disease Ontology Definition:A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis.

Synonyms: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY

Xenbase Genes : phgdh

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011152 - PHGDH deficiency

MIM:
MIM:601815 - PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PHGDHD

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): serine deficiency (is_a)